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Table 1 Genotype of the study group (n = 44)

From: Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study

Karyotype Number of patients (%)
45X 9 (20.5)
Mosaic (non-specified) 9 (20.5)
45X/46Xi(Xq) 4 (9)
45X/46XY 2 (4.5)
45X/46XX 5 (11.4)
45X/46XX/47XXX 1 (2.3)
XX, X, ring chromosome 1 (2.3)
45X/46XrX 3 (6.8)
45X/47XXX 3 (6.8)
Deletion of short arm of X chromosome 2 (4.5)
Deletion of long arm of X chromosome 2 (4.5)
Mosaic 45X with Y material 1 (2.3)
45XO/46XX with complex rearrangement of 2nd X chromosome including SLY gene expression 1 (2.3)
46Xi(X)(q10) 1 (2.3)